The C1-2 joint is unique and is responsible for more than 50% of the neck rotation. The joints have an ergonomic design that allows maximum motion without getting dislocated. It provides six degrees of freedom, the maximum being axial rotation, and is a marvel of nature’s engineering. The morphometry of lateral masses of C1 and C2 joints was analyzed to explain the possible movements despite minor variations. The normal morphometry was compared with the joints of individuals with congenital atlantoaxial dislocation. The structural flaws were assessed to understand the forces leading to dislocation in various planes. The surgical correction of such flaws and engineering involved has been discussed. The joints of patients with congenital atlantoaxial dislocation are deformed and the lateral masses are trapezoidal as compared to the cuboidal lateral masses of normal individuals. The orientation of joints decides the direction and rate of slip of C1 over C2. Surgical correction of the joints is possible by drilling them, aiding in reduction, and preventing redislocation. The construct needs to be as close to the C1-2 joints as possible. Studying the engineering in naturally occurring joints gives us a chance to understand the dynamics of the abnormal ones. Correcting the deformed joints to near-normal ones makes realignment possible in all planes and helps in understanding the best construct to fuse them. Mimicking the naturally occurring joints can help us in developing prosthesis for C1-2 arthroplasty.

We report two cases of gastrointestinal perforation by ventriculoperitoneal (VP) shunts and review the literature on the topic. The time interval between shunt surgery and detection of bowel perforation is minimum in infants and increases with age. Sigmoid and transverse colon followed by stomach are the most frequent sites of gastrointestinal perforations by VP shunts.

This review offers an update on a group of inborn errors of metabolism causing severe epilepsy with the onset in pediatric age (but also other neurological manifestations such as developmental delay or movement disorders) with available effective or potentially effective treatments. The main pathogenic and clinical features and general recommendations for the diagnostic and therapeutic workup of the following disorders are discussed: vitamin B6-dependent epilepsies, cerebral folate deficiency, congenital disorders of serine metabolism, biotinidase deficiency, inborn errors of creatine metabolism, molybdenum cofactor deficiency, and glucose transporter 1 deficiency. Available treatments are more effective on epileptic manifestations (with the possibility of complete seizure control) and motor symptoms, whereas the benefits on cognitive outcome are usually minor.

Concurrent occurrence of subdural hematoma (SDH) in the cranial as well as spinal compartment of craniospinal axis is extremely uncommon. In a detailed PubMed/Medline search, we could find only four cases of spontaneous concurrent craniospinal SDH, and adding our one case to the preexisting literature and thus reviewing total five cases. Spontaneous concurrent intraspinal and intracranial subdural hematoma affected exclusively male in their fourth to fifth decades of life with a mean age of 37.4 years (range 14–59 years). Four cases were managed conservatively and one case needed evacuation of spinal SDH. All cases had good outcome. The authors report an interesting case of spontaneous occurrence of concurrent craniospinal SDH in a boy, who was managed successfully with symptomatic treatment along with blood and blood product transfusion without need of surgical intervention. To the best of authors’ knowledge, current case represents first of its kind occurring in pediatric age in the Western literature. Diagnosis and management along with the pertinent literature is reviewed briefly.

Context: Spina bifida, hydrocephalus, and similar congenital central nervous system (CNS) anomalies take origin from embryologic stages weeks before birth, but assessment and follow-up of these patients are important to figure and predict the effects of these anomalies on child’s neurodevelopment. Aims: To evaluate of multiple groups of congenital CNS anomalies in the neurodevelopment level. Settings and Design: The study was conducted at a research and treatment center for spina bifida patients. Materials and Methods: The study group included 348 patients with a mean age of 15.4 (±15.1) months, who had spina bifida aperta, hydrocephalus, and microcephaly. Patients with other known intracranial conditions were excluded. The subjects were evaluated into five groups: Group 1, 88 patients with congenital hydrocephalus; Group 2, 48 patients with congenital hydrocephalus and ventriculoperitoneal shunt; Group 3, 148 patients with microcephaly; Group 4, 30 patients who were operated for spina bifida aperta; and Group 5, 39 patients who were operated for spina bifida aperta and also had ventriculoperitoneal shunt implantation. Denver Developmental Screening Test II was used to assess patients’ neurodevelopment levels. Statistical Analysis Used: Pearson’s chi-square and Fisher’s exact tests were used for data analysis. Group comparisons were also made in pairs with chi-square test according to Bonferroni corrections. Frequency of abnormal findings was significantly correlated with age (P = 0.014). Results: Total score differences of five groups appeared to be statistically significant according to Pearson’s chi-square test (P = 0.000). When we compared groups in pairs, abnormal results were significantly frequent in shunted groups (P < 0.01). Conclusions: Our results suggested that shunt-dependent hydrocephalus caused serious neurodevelopmental impairments in patients.

Background: The neuro-ichthyotic diseases are clinically and genetically heterogeneous. The purpose of this study was to evaluate the clinical and neuroradiological findings and to analyze mutation in 15 patients with neuro-ichthyotic diseases. Materials and Methods: We retrospectively analyzed the records of 15 patients with the diagnosis of neuro-ichthyotic diseases. Results: Eight female and seven male patients (age range 11 months–52 years) were investigated. There were eight patients with Sjögren–Larsson syndrome (SLS), five patients with multiple sulfatase deficiency (MSD), one patient with Chanarin–Dorfman’s syndrome, and one patient with mental retardation, enteropathy, deafness, neuropathy, ichthyosis, and keratodermia (MEDNIK) syndrome. Parental consanguinity was found in all the patients except one. All patients had ichthyosis. Diagnosis was performed with genetic study. Conclusions: Because biochemical and clinical findings are variable, the diagnosis is difficult in most of the cases. Detailed skin and physical examinations are mandatory in these patients. Genetic tests are necessary for accurate diagnosis.

Introduction: Cystic spinal dysraphism of the cervical region is a relatively rare entity, which is more frequently associated with congenital anomalies such as split cord malformation, Chiari malformation, and corpus callosum agenesis, when compared to their lumbosacral counterpart. In our study, we have highlighted the clinical spectrum, associated anomalies (both neural and extra-neural), and surgical nuances of these. Materials and Methods: This study is a retrospective analysis of 225 patients from June 2010 to April 2017. Twelve patients who were between the age of 1 month and 16 years were included in our study. Average age was 32.6 months, and there were five female patients and seven male patients. All patients underwent neurological and radiological examinations followed by surgical excision of the sac and exploration of the intradural sac using the standard microsurgical technique. Neurological, Orthopedic and urological outcomes were studied in our description. Results: Of the 12 cases, 9 patients (75%) had some associated anomaly. Four of the 12 patients (25%) had split cord malformation, 3 had corpus callosum agenesis, and 5 had Chiari malformation. Patients with cervical spina bifida cystica (SBC) present with less neurologic deficits and greater association with CCA. Conclusion: The management strategy and association with other congenital anomalies separates cervical dysraphism as a different clinical entity rather than just group. These patients rather show favorable outcome with regard to neurologic, orthopedic, and urologic problems as compared to their caudal counterpart. Early surgical intervention even before the onset of symptoms is recommended. A proper radiological and urological evaluation is warranted.

Aim: Split cord malformation (SCM) is associated with extensive vertebral fusions (Klippel–Feil anomaly). In light of previous embryological theories and recent research findings, we attempt to document the origin of split cord, and vertebral fusions involvement of spectrum of genes is necessary to know better the etiopathogenesis of SCM and its associated diseases. Materials and Methods: We used the various databases such as PubMed/MEDLINE, Cochrane Review, Hinari, and Google Scholar for the recently published medical literature. The women had been living and still born infants had SCM. The relative risk (RR) and possible molecular mechanism are described details of major genes and its variants in details. Although molecular genetics involvement including with recent advances of study add an evidence of both Mendelian and Non-Mendelian fashion is discussed with all genetic components. We mentioned our earlier experience and responsibility of SCM and its associated diseases. Results: Although different mechanisms are suggested for the development of SCM observed in our experience, there is a midline lesion bisecting the neuroepithelium and the notochordal plate, which is responsible for complete splitting of the cervical cord with anterior bony defect. The localized disturbance of cervical neural tube closure accounts for SCM with partial dorsal splitting of the cord with posterior vertebral defect and associated diseases. Conclusions: According to the best of our knowledge, this report is the first one to be documented by wider spectrum of variants from (experimental studies to human subject). This add a complex interaction of mutant variants drive toward an additional second-hit alterations for the SCM. The up-to-date information, documented in proper order, derived the bench-to-bedside approach to overcome this burden of SCM, which is globally noticed with other additional diseases.

Study Design: Prospective multicenter study. Objective: To analyze the effect of the Ucar convex rod rotation technique on coronal and sagittal correction in the treatment of Lenke type I adolescent idiopathic scoliosis. Summary of Background Data: Various common curve correction techniques were used in scoliosis. This report describes the efficacy of the global vertebral correction technique with convex rod rotation. Materials and Methods: A total of 28 consecutive patients with Lenke type I adolescent idiopathic scoliosis managed with Ucar convex rod rotation technique between October 2012 and September 2015 were included. The average patient age was 14.8 years at the time of surgery. Measurements of curve magnitude and balance were made on standing anteroposterior, and lateral radiographs were taken before surgery, postoperatively, and at the last follow-up to assess deformity correction, spinal balance, and complications related to instrumentation. Results: The average preoperative main thoracic angle was 64.8° and was decreased to 15.5° postoperatively. The average preoperative T4–T12 thoracic kyphosis was 19.6° and was improved to 24.8°. All patients had mildly imbalanced or balanced shoulders at the final follow-up. Conclusion: Correction rates in the coronal and sagittal planes were as acceptable as those achieved with conventional methods.

Introduction: Phenyl ketonuria is an inborn error of amino acid metabolism resulting in excessive phenyl alanine levels in blood resulting in a spectrum of neurological defects. Patients and Methods: We retrospectively went through the records of patients diagnosed as Phenyl ketonuria in the last nine years in our team and patients who’s data could be accessed were analyzed in detail. Details of laboratory tests, imaging clinical features, course were recorded. Observation: A total of 32 patients were identified in nine years of which data was available only for 15 patients. Age at diagnosis varied from 2.5 years to 7 years. 73% were males. Global developmental delay, Microcephaly. Seizures blond hair, spasticity, regression, Ocular Hypertelorism, low set ears, Seborrhea, Hypotonia, Family history of mental retardation and Consanguinity was common one patient showed a large hypo pigmented area in left arm with eczematous rash. Results of Lab Tests: Urine ferric chloride test and DNPH was positive in all cases. Tandem mass spectroscopy showed elevated phenyl alanine, normal tyrosine and elevated PHE tyrosine ratio in all cases. MRI showed symmetrical Flair hyperintensities in T2 weighted images in the parieto occipital region hypo on T1 with no diffusion restriction in 11 cases and MRS was normal. Genetic testing showed one non consanguineous family having carrier state. Follow up is from 1 year to 5 years. Seizures controlled in all. Regular fallow up shows change in hair color and gain of mile stones. There was no mortality. Conclusion: Phenyl ketonuria is a controllable metabolic disease. However there is considerable delay before diagnosis resulting in persistence of sequelae in children with PKU as well as normal children born to PKU mothers which needs attention to prevent these complications.

Acute disseminated encephalomyelitis (ADEM) is an acute monophasic syndrome caused by immune-mediated inflammatory demyelination, often associated with immunization or viral illness. ADEM is associated with multiple neurological symptoms. We are presenting a case of ADEM with stroke, which responded very well to high-dose steroids. Here we report a case of ADEM, masquerading as pediatric stroke.

Neurofibromatosis type 2 is a rare neurocutaneous syndrome characterized by the development of multiple nervous system tumors. This disorder is also called multiple inherited schwannomas, meningiomas, and ependymomas syndrome. In this report, we discuss the clinical and magnetic resonance imaging findings in a 17-year-old patient with neurofibromatosis type 2, who had extensive cranial nerves involvement (3rd–12th cranial nerves) along with spinal involvement. It is very rare to find tumors affect nearly all cranial nerves (namely 3rd–12th nerves), and their association with meningiomas and intramedullary spinal cord tumors in the same patient.

The management of hydrocephalus represents a neurosurgical challenge. Ventriculoperitoneal (VP) shunts are usually the treatment of choice for hydrocephalus. However, when VP shunt is not an option, ventriculoatrial (VA) shunt becomes a second choice. VA shunts have special complications such as postoperative neck hematomas, shunt nephritis, and migration of the distal segment. There are two main techniques for the retrieval of migrated VA shunt: either by retrieval of the broken segment by thoracotomy, which is highly invasive, or by transvenous approach. A 9-year-old boy presented with severe cerebral palsy, who was VP shunt dependent since birth. The patient developed generalized cerebrospinal fluid (CSF) ascites with peritonitis. The shunt was externalized and infection was treated with intravenous antibiotics. Two weeks later, and due to previous multiple abdominal procedures, it was decided to go for VA shunt and the procedure went well without complications. One month later, the patient presented to emergency department with neck swelling; shunt x-ray showed shunt breakage at clavicular level and the tip of the shunt was dislodged into the pulmonary artery. Under general anesthesia and after getting informed consent, through femoral vein, VA shunt was retrieved successfully without complications and new VP shunt was inserted. Migration of the distal segment of a broken atrial catheter is rare, but has a significant complication and is major cause of mortality. Endovascular retrieval of migrated shunts is less invasive, is feasible, and prevents further complications. There has been similar case in the adult English literature; however, to the best of our knowledge, this is the first reported case in the English literature of a successful endovascular retrieval of migrated dislodged VA shunt in pediatrics.

A 2-year-old boy was presented to us with right-side hemiparesis after trivial fall. Diffusion-weighted magnetic resonance imaging showed an infarct in left basal ganglia and thalamic region. Secondary causes of stroke were ruled out. The child was managed conservatively. Basal ganglia infarct secondary to minor trauma is a rare event. Possible mechanisms leading to such an event and its management are discussed.

Extramedullary leukemia is common in pediatric acute myeloid leukemia (AML) and occurs as a solid tumor (myeloid sarcoma). We report a case of a child who presented with acute onset of paraparesis and found to have intracranial and paravertebral mass; subsequently, he was diagnosed as having AML on tissue biopsy. He was started on AML treatment protocol, and later he was in remission and myeloid sarcoma got cleared from intracranial and paravertebral region. Timely diagnosis and initiation of treatment are essential to improve survival in such cases.

The case of a term newborn diagnosed with Aicardi–Goutières syndrome, a rare encephalopathy in our environment, with Mendelian inheritance pattern, characterized by a set of nonspecific neurological symptoms associated with typical findings of intracerebral calcifications. The case is presented with diagnostic imaging, in addition to elevated levels of interferon alpha and cerebrospinal fluid lymphocytosis.

Intracranial hydatid cyst: A report of three cases in North-West India

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Sachidanand Gautam, Anubhav SharmaDOI:10.4103/JPN.JPN_141_17

Human echinococcus is caused by tapeworm, Echinococcus granulosus, which forms larval cysts in the human tissue. Incidence in the cerebral form is only 1–2%. This localization can be associated with the involvement of other organs such as liver or lung or may be an isolated infestation of the brain or spinal column. Surgical removal of the intact and unruptured cyst is advised to prevent local recurrence that may require further surgery and long-term treatment with parasiticidal agents. We report three cases who presented with headache, vomiting, hemiparesis with decreased visual acuity, and convulsions. MRI showed a giant hydatid cyst in all three cases which was removed surgically and the patient was successfully discharged. Successful treatment of hydatid cyst requires preoperative diagnosis and meticulous surgical technique for complete excision of cyst without rupture under perioperative coverage of albendazole to avoid recurrence and anaphylaxis.

Epidermoid cysts are slow-growing benign tumors that represent less than 1–2% of all intracranial tumors. They are even rarer in supratentorial intraparenchymal location accounting for 2% of all intracranial epidermoid cysts. We present a rare case of pediatric supratentorial intraparenchymal epidermoid cyst with its variable radiographic features, surgical management, histopathology, and a review of the literature.

A young girl with l-dopa responsive dystonia showed significant improvements in motor function but had ongoing complaints of neuropsychological difficulties. A neuropsychological evaluation was undertaken to understand the nature of her difficulties. Intellectual function, attention, executive function, and academic attainment were assessed using published psychometric tests. Verbal and non-verbal reasoning was found to be age appropriate. Particular difficulties were identified with working memory, visual selective attention, dual attention, and processing speed which were having a significant impact upon the child and her family. The importance of a thorough neuropsychological evaluation is discussed in helping to appropriately manage and support the child with this chronic but rare health condition.

Maple syrup urine disease (MSUD) is a rare autosomal-recessive disorder that affects branched-chain amino acid (BCAA) metabolism. It is characterized by accumulation of BCAAs and corresponding branched-chain keto acids of leucine, isoleucine, and valine in plasma, urine, and cerebrospinal fluid. Leucine is toxic to brain cells, leading to cytotoxic edema affecting the myelinated white matter, and involving the corticospinal tracts, thalami, globus palladi, midbrain, dorsal brain stem, and cerebellum. We present a neonate with the classic subtype of MSUD and its imaging features on magnetic resonance imaging.

Hemimegalencephaly: Seizure outcome in an infant after hemispherectomy

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Prem Chand, Pooja Manglani, Qalab AbbasDOI:10.4103/JPN.JPN_56_17

Isolated hemimegalencephaly (iHME) is a rare form of congenital malformation of cortical development characterized by enlargement of all or part of one cerebral hemisphere. It typically presents with intractable seizures, developmental delay, contralateral hemiparesis, and hemianopia. We report a case of an 18-month-old girl who presented first with focal seizures at tenth day of life, with no other physical or behavioral abnormality. Initial EEG showed excessive sharp EEG transients more over the right hemisphere; repeated EEG showed spikes, polyspikes, sharps, and slow wave discharges predominately over the right hemisphere. MRI of the brain showed asymmetric enlargement of the right cerebral hemisphere, suggestive of hemimegalencephaly. Initial treatment with antiepileptic drugs (AEDs) was successful in controlling her seizures, but later on the seizures became intractable even on polytherapy of AEDs; finally, functional hemispherectomy was performed and she became seizure free. Identification of this and similar cases of iHME can help us to better understand this disorder and eventually to provide better treatment options for it.

Mycoplasma pneumoniae is a microbe known to affect numerous organ systems, and in particular, can cause neurological manifestations. We describe an otherwise healthy child who presented with acute onset intractable headache with magnetic resonance imaging (MRI) findings consistent with posterior reversible encephalopathy syndrome (PRES), a neurological manifestation that presents with headache, vision changes, altered mental status, or seizures. Our patient did not have any of the common etiologies for PRES reported but tested positive for acute M. pneumonia infection. The clinical course followed that expected in PRES with rapid resolution of symptoms and MRI findings in subsequent imaging. Literature review shows association between Mycoplasma infection with encephalitis and cerebellitis, but none with PRES in children. Evidence of recent mycoplasma infection in a healthy patient presenting with clinical/radiological findings consistent with PRES, especially in the absence of known predisposing factors, raises the question of M. pneumoniae infection being a trigger for PRES.

Posterior quadrantic dysplasia (PQD) is a rare cause of pediatric intractable epilepsy. It is a sporadic cortical development malformation that involves the posterior three lobes of a single hemisphere and spares the frontal cortex. Very few cases have been reported in the literature, mostly as anecdotal reports or as a part of large series of refractory epilepsy. It is essential to know about this lesser known entity and differentiate it from other more common similar anomalies such as multilobar cortical dysplasia and hemimegalencephaly as new motor-sparing neurosurgical disconnective procedures have led to dramatically reduced mortality and morbidity rates, apart from gifting the affected children a better quality of life. Magnetic resonance imaging (MRI) is pivotal in astute diagnosis of the condition and accurate delineation of boundaries of the lesion to aid in neurosurgical management. We report one such case of PQD presenting with refractory epilepsy, which was diagnosed on MRI.

Pancytopenia secondary to levetiracetam administration is infrequent but possible. Here, we report a case of pancytopenia associated with levetiracetam in a 4-month-old infant. However, increased incidence of upper respiratory tract infections (URTIs) has been reported frequently. It appears that URTI is a heralding side effect of pancytopenia and tip of the iceberg.